| 马昕驰,张 娜.CYP2D6基因型多态性及其对他莫昔芬治疗的影响研究进展[J].肿瘤学杂志,2020,26(6):528-533. |
| CYP2D6基因型多态性及其对他莫昔芬治疗的影响研究进展 |
| Advances in Association between CYP2D6 Genotype Polymorphism and Efficacy of Tamoxifen Therapy |
| 投稿时间：2019-09-18 |
| DOI：10.11735/j.issn.1671-170X.2020.06.B012 |
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| 中文关键词: 乳腺肿瘤 他莫昔芬 CYP2D6 基因多态性 |
| 英文关键词:breast cancer tamoxifen CYP2D6 gene polymorphism |
| 基金项目: |
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| 中文摘要: |
| 摘 要：他莫昔芬（Tamoxifen，TAM）是雌激素受体（estrogen receptor，ER）阳性乳腺癌患者的标准辅助内分泌治疗药物。肝细胞色素P450 2D6（cytochromeP450 2D6，CYP2D6）是一种重要的代谢酶，在TAM代谢过程中发挥关键作用。CYP2D6编码基因具有多态性，不同等位基因型的乳腺癌患者CYP2D6代谢酶的活性存在较大差异，对TAM治疗的反应亦不同。研究表明，CYP2D6突变会导致TAM的活性抗肿瘤成分endoxifen的血药浓度明显降低，但其是否影响TAM的治疗疗效尚未得出一致结论。我国人群中常见的CYP2D6基因突变有别于其他人种，具有明显的地域差异。全文综述国内外CYP2D6基因型多态性分布，并结合回顾性及前瞻性临床试验分析CYP2D6基因型多态性对TAM疗效及患者预后的影响，旨在指导我国乳腺癌患者TAM个体化用药。 |
| 英文摘要: |
| Abstract：Tamoxifen(TAM) is a standard adjuvant endocrine therapy for estrogen receptor(ER)-positive breast cancer patients. Hepatic cytochrome P450 2D6(cytochrome P450 2D6，CYP2D6) is an important metabolic enzyme involving in the metabolic process of TAM. The CYP2D6 coding gene is polymorphic，and the activity of CYP2D6 metabolic enzymes in breast cancer patients with different allele types is quite different，which would affect the response to TAM treatment. Studies have shown that the CYP2D6 mutation causes a significant decrease in the blood concentration of the active antitumor component endoxifen of TAM，but it has no consensus whether it would affect the therapeutic efficacy of TAM. The mutations of CYP2D6 gene commonly found in Chinese population are different from other races and have obvious regional differences. This review summarizes the distribution of CYP2D6 genotypes，and analyzes the effect of CYP2D6 genotype polymorphism on TAM efficacy and prognosis of patients based on the results of clinical trials，to provide information of the individualized TAM medication for breast cancer patients in China. |
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